Variant position: 126 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 324 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VSELGDKTFFIAAIMAMRYN RLTVLAGAMLALGLMTCLSVL
Mouse VSELGDKTFFIAAIMAMRYN RLTVLAGAMLALALMTCLSVL
Rat VSELGDKTFFIAAIMAMRYN RLTVLAGAMLALALMTCLSVL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
34 – 324 Transmembrane protein 165
111 – 126 Cytoplasmic
124 – 124 Y -> S. Alters subcellular location.
127 – 127 L -> G. No effect on subcellular location.
Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.
Rosnoblet C.; Legrand D.; Demaegd D.; Hacine-Gherbi H.; de Bettignies G.; Bammens R.; Borrego C.; Duvet S.; Morsomme P.; Matthijs G.; Foulquier F.;
Hum. Mol. Genet. 22:2914-2928(2013)
Cited for: SUBCELLULAR LOCATION; MUTAGENESIS OF TYR-124; LEU-127 AND 209-LEU-LEU-210; CHARACTERIZATION OF VARIANTS CDG2K HIS-126; CYS-126 AND ARG-304; TOPOLOGY;
TMEM165 deficiency causes a congenital disorder of glycosylation.
Foulquier F.; Amyere M.; Jaeken J.; Zeevaert R.; Schollen E.; Race V.; Bammens R.; Morelle W.; Rosnoblet C.; Legrand D.; Demaegd D.; Buist N.; Cheillan D.; Guffon N.; Morsomme P.; Annaert W.; Freeze H.H.; Van Schaftingen E.; Vikkula M.; Matthijs G.;
Am. J. Hum. Genet. 91:15-26(2012)
Cited for: VARIANTS CDG2K HIS-126; CYS-126 AND ARG-304; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.